The first commercial test for diagnosing the most common formof Charcot-Marie-Tooth (CMT) disease should be available nextmonth, according to Genica Pharmaceuticals Corp. of Worcester,Mass.
The new test, developed at Baylor College of Medicine inHouston and licensed exclusively to Genica, uses pulsed-fieldgel electrophoresis (PFGE) to test blood samples from familymembers and individuals at risk for contracting theneuromuscular disease.
About one in 2,500 people suffers from CMT disease, in whichthe nerves of the feet, lower legs, hands and forearmsgradually atrophy, leading to loss of sensation and deformity.The disease has been difficult to diagnose and can be confusedwith other neurological disorders. However, unlike musculardystrophy, in which the disorder is in the muscles, CMT is adisorder in which the genetic defect is in the nerves thatcontrol the muscles.
Genica's PFGE-based test is "a relatively non-invasivetechnology in comparison to what is currently available,"explained Karol Hitt, president of the Charcot-Marie-ToothAssociation. "Until now, detection relied on electro-diagnostictests, including the electromyelograph and nerve-conductionvelocity." -- Jennifer Van Brunt
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